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Previous Volume 355:1345-1356 September 28, 2006 Number 13 Next

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The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin) (see the Glossary). First described in depth by Bourneville in 1880,¹ TSC often causes disabling neurologic disorders, including epilepsy, mental retardation, and autism. Additional major features of the disease include dermatologic manifestations such as facial angiofibromas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. TSC has a wide clinical spectrum of disease, and many patients have minimal signs and symptoms with no neurologic disability. With the discovery of the two genes responsible for TSC . . . [Full Text of this Article]

Clinical Features and Diagnosis

Renal Lesions

Pulmonary Manifestations

Neurologic Manifestations

Cardiac Lesions

Molecular Genetics

Functions of TSC1 and TSC2

TSC Proteins and Interacting Factors

TSC1–TSC2 Signaling and Clinical Manifestations of TSC

Aberrant Differentiation in Renal Angiomyolipomas

The "Benign Metastasis" Hypothesis

Cell-Selective Activation of mTOR in Tubers and Subependymal Giant-Cell Tumors

Practical Management

Therapeutic Developments

Conclusions

Source Information

From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical Center; and the Department of Medical Oncology, Fox Chase Cancer Center (E.P.H.) — both in Philadelphia.

Drs. Crino and Henske contributed equally to this article.

Address reprint requests to Dr. Crino at the Department of Neurology, 3 West Gates Bldg., 3400 Spruce St., University of Pennsylvania Medical Center, Philadelphia, PA 19104, or at peter.crino@uphs.upenn.edu.

Related Letters:

The Tuberous Sclerosis Complex
de Vries P. J., Prather P. A., Lipsker D., Konstantinopoulos P. A., Papavassiliou A. G., Crino P. B., Nathanson K. L., Henske E. P.
Extract | Full Text | PDF  
N Engl J Med 2007; 356:92-94, Jan 4, 2007. Correspondence

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